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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
PINX1 - PIN2 (TERF1) Interacting Telomerase Inhibitor 1
Alias:
Gno1
LPTL
LPTS
Pxr1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
具有端粒酶RNA结合活性和端粒酶抑制剂活性。参与几个过程,包括负调控DNA生物合成过程;正调控蛋白定位到核仁;以及蛋白定位到细胞器。通过端粒酶在端粒维持的上游或内部发挥作用。位于几个细胞组件中,包括染色体区域;核腔;和纺锤体。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:54984
ENSEMBL:ENSG00000254093
HGNC:30046
UNIPROT:Q96BK5
OMIM:606505
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54984
2
7
74915 bp
37.03
30
--
3
17
PINX1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
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Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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